ClinVar Miner

List of variants reported as pathogenic for mitochondrial DNA depletion syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (58):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 230
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) rs202037973 0.00024
NM_003850.3(SUCLA2):c.985A>G (p.Met329Val) rs200167311 0.00015
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys) rs11546842 0.00011
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln) rs375305567 0.00008
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) rs139590686 0.00008
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
NM_002693.3(POLG):c.3287G>A (p.Arg1096His) rs368435864 0.00006
NM_018238.4(AGK):c.297+2T>C rs765471424 0.00005
NM_002693.3(POLG):c.1433+1G>A rs771623994 0.00004
NM_002693.3(POLG):c.3104+3A>T rs778573169 0.00004
NM_002693.3(POLG):c.428C>T (p.Ala143Val) rs796052899 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_002693.3(POLG):c.2420G>A (p.Arg807His) rs796052887 0.00003
NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg) rs121918049 0.00003
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_002693.3(POLG):c.907G>A (p.Gly303Arg) rs749799663 0.00003
NM_002693.3(POLG):c.1735C>T (p.Arg579Trp) rs556925652 0.00002
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr) rs763393580 0.00002
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu) rs267606959 0.00002
NM_018238.4(AGK):c.672C>A (p.Tyr224Ter) rs771945804 0.00002
NM_002693.3(POLG):c.1120C>T (p.Arg374Ter) rs960142425 0.00001
NM_002693.3(POLG):c.1433+2T>C rs920850257 0.00001
NM_002693.3(POLG):c.163C>T (p.Gln55Ter) rs2055626123 0.00001
NM_002693.3(POLG):c.1720C>T (p.Arg574Trp) rs774474723 0.00001
NM_002693.3(POLG):c.1879C>T (p.Arg627Trp) rs121918046 0.00001
NM_002693.3(POLG):c.1943C>G (p.Pro648Arg) rs796052906 0.00001
NM_002693.3(POLG):c.2143C>T (p.Gln715Ter) rs1254855971 0.00001
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys) rs769827124 0.00001
NM_002693.3(POLG):c.2591A>G (p.Asn864Ser) rs121918050 0.00001
NM_002693.3(POLG):c.2869G>C (p.Ala957Pro) rs121918051 0.00001
NM_002693.3(POLG):c.2870C>T (p.Ala957Val) rs753160398 0.00001
NM_002693.3(POLG):c.2897T>G (p.Leu966Arg) rs142347031 0.00001
NM_002693.3(POLG):c.3241C>T (p.Arg1081Ter) rs767708989 0.00001
NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg) rs761649878 0.00001
NM_002693.3(POLG):c.3406G>A (p.Glu1136Lys) rs56047213 0.00001
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu) rs776031396 0.00001
NM_002693.3(POLG):c.3550G>A (p.Asp1184Asn) rs1131691575 0.00001
NM_002693.3(POLG):c.679C>T (p.Arg227Trp) rs121918056 0.00001
NM_002693.3(POLG):c.695G>A (p.Arg232His) rs113994093 0.00001
NM_002693.3(POLG):c.823C>T (p.Arg275Ter) rs1057517803 0.00001
NM_002693.3(POLG):c.915C>G (p.Ser305Arg) rs769410130 0.00001
NM_002693.3(POLG):c.926G>A (p.Arg309His) rs780953863 0.00001
NM_003849.4(SUCLG1):c.460C>T (p.Arg154Ter) rs369153479 0.00001
NM_003849.4(SUCLG1):c.814C>T (p.Gln272Ter) rs1246050542 0.00001
NM_003850.3(SUCLA2):c.348_355dup (p.Val119fs) rs1425790333 0.00001
NM_003850.3(SUCLA2):c.478C>T (p.Arg160Ter) rs1950124035 0.00001
NM_003850.3(SUCLA2):c.534+1G>A rs113994161 0.00001
NM_003850.3(SUCLA2):c.850C>T (p.Arg284Cys) rs121908538 0.00001
NM_018238.4(AGK):c.409C>T (p.Arg137Ter) rs746709222 0.00001
NM_018238.4(AGK):c.412C>T (p.Arg138Ter) rs1199705359 0.00001
NM_018238.4(AGK):c.841C>T (p.Arg281Ter) rs387907025 0.00001
NC_000002.11:g.(?_84650850)_(84686413_?)del
NC_000007.13:g.(?_140434397)_(141759786_?)del
NC_000007.13:g.(?_141255267)_(141301100_?)del
NC_000007.13:g.(?_141292926)_(141293005_?)del
NC_000007.13:g.(?_141351305)_(141352724_?)del
NC_000013.10:g.(?_48517506)_(48575405_?)del
NC_000013.10:g.(?_48517506)_(49070513_?)del
NC_000013.10:g.(?_48562656)_(48575405_?)del
NC_000015.10:g.89319351del
NC_000015.10:g.89327064del
NC_000015.9:g.(?_89828307)_(89876985_?)del
NC_000015.9:g.(?_89856115)_(89862000_?)del
NC_000015.9:g.(?_89860587)_(89860787_?)del
NC_000015.9:g.(?_89860587)_(89876985_?)del
NC_000015.9:g.(?_89862142)_(89867152_?)del
NC_000015.9:g.(?_89862161)_(89864158_?)del
NC_000015.9:g.(?_89862162)_(89864159_?)del
NC_000015.9:g.(?_89873292)_(89873527_?)del
NM_002693.3(POLG):c.1035G>A (p.Trp345Ter) rs2152067996
NM_002693.3(POLG):c.110_119dup (p.Arg42fs)
NM_002693.3(POLG):c.1128_1129del (p.Phe377fs)
NM_002693.3(POLG):c.1185C>G (p.Tyr395Ter)
NM_002693.3(POLG):c.1237_1250dup (p.Arg417fs) rs2152067781
NM_002693.3(POLG):c.1251-2A>G rs2055536585
NM_002693.3(POLG):c.1251-2A>T
NM_002693.3(POLG):c.1270_1271del (p.Leu424fs) rs796052908
NM_002693.3(POLG):c.1293del (p.Val432fs)
NM_002693.3(POLG):c.1345C>T (p.Gln449Ter) rs1567191417
NM_002693.3(POLG):c.1356T>A (p.Tyr452Ter)
NM_002693.3(POLG):c.136C>T (p.Gln46Ter)
NM_002693.3(POLG):c.1390dup (p.Met464fs)
NM_002693.3(POLG):c.1432_1433del (p.Arg478fs)
NM_002693.3(POLG):c.1433+1G>C
NM_002693.3(POLG):c.1451G>A (p.Trp484Ter)
NM_002693.3(POLG):c.1457G>A (p.Trp486Ter) rs2055531147
NM_002693.3(POLG):c.145C>T (p.Gln49Ter)
NM_002693.3(POLG):c.1575_1578del (p.Met525fs) rs1253517114
NM_002693.3(POLG):c.157C>T (p.Gln53Ter)
NM_002693.3(POLG):c.1590del (p.Gly531fs)
NM_002693.3(POLG):c.1700del (p.Pro567fs)
NM_002693.3(POLG):c.1704_1712+1del
NM_002693.3(POLG):c.1716G>A (p.Trp572Ter) rs767709505
NM_002693.3(POLG):c.172C>T (p.Gln58Ter) rs2055625602
NM_002693.3(POLG):c.1763G>A (p.Gly588Asp) rs371334941
NM_002693.3(POLG):c.1783C>T (p.Gln595Ter) rs2152065937
NM_002693.3(POLG):c.1783_1786dup (p.Met596fs) rs2152065935
NM_002693.3(POLG):c.1789C>T (p.Arg597Trp) rs139717885
NM_002693.3(POLG):c.1789_1791del (p.Arg597del)
NM_002693.3(POLG):c.178C>T (p.Gln60Ter)
NM_002693.3(POLG):c.1796C>T (p.Thr599Ile)
NM_002693.3(POLG):c.1818del (p.Trp607fs) rs2055505065
NM_002693.3(POLG):c.1846del (p.Glu616fs) rs2152065886
NM_002693.3(POLG):c.1860G>A (p.Trp620Ter)
NM_002693.3(POLG):c.1887del (p.Asp629fs) rs2055503614
NM_002693.3(POLG):c.1912dup (p.Thr638fs)
NM_002693.3(POLG):c.1947C>A (p.Tyr649Ter) rs1465650547
NM_002693.3(POLG):c.1988_1989del (p.Gln663fs) rs1483201828
NM_002693.3(POLG):c.1994_1998del (p.Lys665fs)
NM_002693.3(POLG):c.1996C>T (p.Gln666Ter)
NM_002693.3(POLG):c.2004del (p.Met669fs) rs2152063421
NM_002693.3(POLG):c.202C>T (p.Gln68Ter) rs202039305
NM_002693.3(POLG):c.2085_2098del (p.Asp695fs)
NM_002693.3(POLG):c.2125C>T (p.Arg709Ter) rs867038717
NM_002693.3(POLG):c.2134del (p.Val712fs)
NM_002693.3(POLG):c.2217C>A (p.Tyr739Ter) rs750514687
NM_002693.3(POLG):c.2217_2230dup (p.Ile744fs) rs1282521429
NM_002693.3(POLG):c.221_227del (p.Leu74fs)
NM_002693.3(POLG):c.229C>T (p.Gln77Ter)
NM_002693.3(POLG):c.2311del (p.Leu771fs)
NM_002693.3(POLG):c.2395del (p.Ser799fs) rs796052919
NM_002693.3(POLG):c.2420G>C (p.Arg807Pro)
NM_002693.3(POLG):c.2456C>A (p.Ser819Ter)
NM_002693.3(POLG):c.2480+1G>T
NM_002693.3(POLG):c.2496_2529del (p.Asp832fs)
NM_002693.3(POLG):c.2551A>G (p.Thr851Ala) rs775445970
NM_002693.3(POLG):c.2584G>A (p.Ala862Thr) rs778429780
NM_002693.3(POLG):c.2605C>T (p.Arg869Ter) rs751376824
NM_002693.3(POLG):c.2606G>A (p.Arg869Gln) rs1356604153
NM_002693.3(POLG):c.2617G>T (p.Glu873Ter) rs121918047
NM_002693.3(POLG):c.2674dup (p.Asp892fs) rs1283198587
NM_002693.3(POLG):c.2680C>T (p.Gln894Ter)
NM_002693.3(POLG):c.268C>T (p.Gln90Ter) rs1473911378
NM_002693.3(POLG):c.2690G>A (p.Trp897Ter)
NM_002693.3(POLG):c.2691_2703dup (p.Leu902fs) rs2152061226
NM_002693.3(POLG):c.2753G>A (p.Trp918Ter) rs2152061062
NM_002693.3(POLG):c.2764C>T (p.Gln922Ter)
NM_002693.3(POLG):c.2794C>T (p.His932Tyr) rs121918048
NM_002693.3(POLG):c.2827C>T (p.Arg943Cys) rs1567186614
NM_002693.3(POLG):c.2828G>A (p.Arg943His) rs1567186613
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys) rs113994099
NM_002693.3(POLG):c.2869G>T (p.Ala957Ser) rs121918051
NM_002693.3(POLG):c.287del (p.Gly96fs) rs2141815273
NM_002693.3(POLG):c.2884dup (p.Ala962fs) rs1252078081
NM_002693.3(POLG):c.2894_2897del (p.Arg964_Leu965insTer) rs2152060929
NM_002693.3(POLG):c.3003_3013del (p.Trp1003fs) rs2055359441
NM_002693.3(POLG):c.3014_3057del (p.Val1005fs) rs886041276
NM_002693.3(POLG):c.3091_3092del (p.Glu1031fs) rs1555452607
NM_002693.3(POLG):c.313G>T (p.Glu105Ter)
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002693.3(POLG):c.3155dup (p.Thr1053fs) rs1447799185
NM_002693.3(POLG):c.3187_3188del (p.Ser1063fs)
NM_002693.3(POLG):c.3249_3256del (p.Glu1084fs)
NM_002693.3(POLG):c.3255dup (p.Ser1086fs) rs1596350386
NM_002693.3(POLG):c.3268G>T (p.Glu1090Ter)
NM_002693.3(POLG):c.3304C>T (p.Gln1102Ter)
NM_002693.3(POLG):c.3311C>G (p.Ser1104Cys)
NM_002693.3(POLG):c.3316G>A (p.Val1106Ile)
NM_002693.3(POLG):c.3325_3328del (p.Leu1109fs) rs1442498340
NM_002693.3(POLG):c.3326dup (p.Leu1109fs) rs2152058768
NM_002693.3(POLG):c.3358_3361dup (p.Glu1121delinsValTer) rs1064793800
NM_002693.3(POLG):c.3409dup (p.Val1137fs) rs1555452461
NM_002693.3(POLG):c.3412C>T (p.Arg1138Cys) rs767138032
NM_002693.3(POLG):c.3482+1G>T
NM_002693.3(POLG):c.3482+2T>C rs1466226819
NM_002693.3(POLG):c.3489_3553dup (p.Ile1185delinsSerLeuProThrSerTrpValTer)
NM_002693.3(POLG):c.3491_3492dup (p.Ala1165fs)
NM_002693.3(POLG):c.3501del (p.Lys1167fs)
NM_002693.3(POLG):c.3523C>T (p.Gln1175Ter) rs1567184117
NM_002693.3(POLG):c.3528_3531dup (p.Ala1178fs)
NM_002693.3(POLG):c.3570del (p.Lys1191fs)
NM_002693.3(POLG):c.3573G>T (p.Lys1191Asn) rs1085307741
NM_002693.3(POLG):c.3574G>T (p.Glu1192Ter) rs2055309922
NM_002693.3(POLG):c.3576_3580dup (p.Thr1194delinsLysTer) rs2152056369
NM_002693.3(POLG):c.3601del (p.Ser1201fs) rs781311846
NM_002693.3(POLG):c.3608_3612del (p.Pro1203fs)
NM_002693.3(POLG):c.3609_3612dup (p.Gly1205fs) rs886043241
NM_002693.3(POLG):c.3630C>G (p.Tyr1210Ter) rs139562274
NM_002693.3(POLG):c.3643+1G>A
NM_002693.3(POLG):c.3643+2T>C rs1335880349
NM_002693.3(POLG):c.380_386del (p.Leu127fs) rs1064794735
NM_002693.3(POLG):c.409C>T (p.Gln137Ter) rs1057517891
NM_002693.3(POLG):c.552_657del (p.Val185fs)
NM_002693.3(POLG):c.570del (p.Glu191fs)
NM_002693.3(POLG):c.590_596del (p.Phe197fs)
NM_002693.3(POLG):c.624C>A (p.Cys208Ter) rs1159974816
NM_002693.3(POLG):c.646del (p.Ser216fs) rs1567193844
NM_002693.3(POLG):c.660G>A (p.Trp220Ter) rs1596360430
NM_002693.3(POLG):c.679_680del (p.Arg227fs)
NM_002693.3(POLG):c.67_88del (p.Gly23fs) rs2055630470
NM_002693.3(POLG):c.739dup (p.Leu247fs)
NM_002693.3(POLG):c.782G>A (p.Trp261Ter)
NM_002693.3(POLG):c.824G>A (p.Arg275Gln) rs1555453950
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.3(POLG):c.846C>G (p.Tyr282Ter) rs2152068651
NM_002693.3(POLG):c.922C>T (p.Gln308Ter) rs1555453824
NM_002693.3(POLG):c.925C>T (p.Arg309Cys) rs886041592
NM_002693.3(POLG):c.934T>C (p.Trp312Arg)
NM_002693.3(POLG):c.935G>A (p.Trp312Ter)
NM_002693.3(POLG):c.967C>T (p.Gln323Ter)
NM_002693.3(POLG):c.991_992insG (p.Lys331fs)
NM_003849.4(SUCLG1):c.169_170del (p.Lys57fs) rs1672907018
NM_003849.4(SUCLG1):c.199C>T (p.Gln67Ter)
NM_003849.4(SUCLG1):c.40A>T (p.Met14Leu) rs796052053
NM_003849.4(SUCLG1):c.445C>T (p.Gln149Ter)
NM_003849.4(SUCLG1):c.583_586del (p.Arg195fs)
NM_003849.4(SUCLG1):c.626C>A (p.Ala209Glu)
NM_003849.4(SUCLG1):c.835del (p.Ser279fs)
NM_003850.3(SUCLA2):c.21C>G (p.Tyr7Ter)
NM_003850.3(SUCLA2):c.251dup (p.Tyr84Ter) rs1309421397
NM_003850.3(SUCLA2):c.371+1G>C rs985896883
NM_003850.3(SUCLA2):c.920C>T (p.Ala307Val) rs1011464708
NM_003850.3(SUCLA2):c.998A>G (p.Asp333Gly)
NM_018238.4(AGK):c.1035dup (p.Ile346fs) rs1259937492
NM_018238.4(AGK):c.1131+2T>C rs1797560612
NM_018238.4(AGK):c.1141_1142dup (p.Ser382fs) rs1554405928
NM_018238.4(AGK):c.1166_1167dup (p.Tyr390fs)
NM_018238.4(AGK):c.25C>T (p.Arg9Ter)
NM_018238.4(AGK):c.269T>G (p.Leu90Ter)
NM_018238.4(AGK):c.356dup (p.Ile120fs)
NM_018238.4(AGK):c.388G>T (p.Glu130Ter)
NM_018238.4(AGK):c.409del (p.Arg137fs)
NM_018238.4(AGK):c.523_524del (p.Ile175fs) rs1228071168
NM_018238.4(AGK):c.632G>A (p.Trp211Ter) rs2116998520
NM_018238.4(AGK):c.860G>A (p.Trp287Ter)

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